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Incomplete partition type II in its various manifestations: isolated, in association with EVA, syndromic, and beyond; a multicentre international study.

Neuroradiology - 1 Aug 2024

D'Arco Felice, Kandemirli Sedat G, Dahmoush Hisham M, Alves Cesar A P F, Severino Mariasavina, Dellepiane Francesco, Robson Caroline D, Lequin Maarten H, Rossi-Espagnet Camilla, O'Brien William T, Nash Robert, Clement Emma, Juliano Amy F

Abstract excerpt

PURPOSE: Incomplete partition type II (IP-II) is characterized by specific histological features and radiological appearance. It may occur in isolation or in association with an enlarged vestibular aqueduct (EVA). Among those with IP-II and EVA, a subset has a diagnosis of Pendred syndrome. This study aimed to explore the prevalence of isolated IP-II, IP-II with EVA, and cases with a genetic or syndromic basis in...

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PMID: 38833161
DOI: 10.1007/s00234-024-03386-z

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